craniometaphyseal dysplasia includes Craniodiametaphyseal Dysplasias as subtypes

[cmungall]

[Term]
id: DOID:0080033
name: craniometaphyseal dysplasia
namespace: disease_ontology
def: "An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs." [url:http://children.webmd.com/craniometaphyseal-dysplasia, url:http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia, url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia]
comment: Xref MGI.
subset: DO_MGI_slim  ! DO_MGI_slim
xref: OMIM:122860 ! Craniodiaphyseal Dysplasia, Autosomal Dominant ***
xref: OMIM:123000 ! Craniometaphyseal Dysplasia, Autosomal Dominant  
xref: OMIM:218300 ! Craniodiaphyseal Dysplasia ***
xref: OMIM:218400 ! Craniometaphyseal Dysplasia, Autosomal Recessive 
xref: OMIM:614099 ! Cranioectodermal Dysplasia 3
xref: OMIM:614378 ! Cranioectodermal Dysplasia 4
xref: Orphanet:1522 ! Craniometaphyseal dysplasia
is_a: DOID:4254  ! osteosclerosis

I think this grouping is too eager. See: https://github.com/monarch-initiative/human-disease-ontology/issues/27#issuecomment-90134383

[elviram]

Thank you Chris. Will take a look at it!

[cmungall]

Compare with:

[Term]
id: Orphanet:1522
name: Craniometaphyseal dysplasia
xref: ICD-10:Q78.8
xref: OMIM:123000 ! Craniometaphyseal Dysplasia, Autosomal Dominant
xref: OMIM:218400 ! Craniometaphyseal Dysplasia, Autosomal Recessive
is_a: Orphanet:377789  ! malformation syndrome
relationship: has_AgeOfOnset Orphanet:409946 ! Childhood
relationship: has_inheritance Orphanet:409929 ! autosomal dominant
relationship: has_inheritance Orphanet:409930 ! autosomal recessive
relationship: has_point_prevalence_range Orphanet:409979 ! <1 / 1 000 000
relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density
relationship: present_in Orphanet:409991 ! Worldwide